Chabrol B - Search Results

1

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: chabrol b. Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7. Eur J Hum Genet. 2014. PMID: 23921535 Free PMC article.

2

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion.

Paquis-Flucklinger V, Pellissier JF, Camboulives J, Chabrol B, Saunières A, Monfort MF, Giudicelli H, Desnuelle C. Paquis-Flucklinger V, et al. Among authors: chabrol b. Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834. Eur J Pediatr. 1995. PMID: 7556323

3

Neonatal lower motor neuron syndrome associated with maternal neuropathy with anti-GM1 IgG.

Attarian S, Azulay JP, Chabrol B, Escande-Beillard N, Pouget J, Boucraut J. Attarian S, et al. Among authors: chabrol b. Neurology. 2004 Jul 27;63(2):379-81. doi: 10.1212/01.wnl.0000130193.32776.da. Neurology. 2004. PMID: 15277645

4

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS. Giuliano F, et al. Among authors: chabrol b. Hum Mutat. 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. Hum Mutat. 2005. PMID: 15605410

5

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V. Monnot S, et al. Among authors: chabrol b. Arch Pediatr. 2005 May;12(5):568-71. doi: 10.1016/j.arcped.2005.01.019. Arch Pediatr. 2005. PMID: 15885549 French.

6

Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.

Fernandez C, de Paula AM, Figarella-Branger D, Krahn M, Giorgi R, Chabrol B, Monfort MF, Pouget J, Pellissier JF. Fernandez C, et al. Among authors: chabrol b. Neurology. 2006 May 23;66(10):1585-7. doi: 10.1212/01.wnl.0000216144.69630.6e. Neurology. 2006. PMID: 16717227

7

[Lambert-Eaton myastenic syndrome revealing neuroblastoma in 2 children].

Bosdure E, Attarian S, Mancini J, Mikaeloff Y, Chabrol B. Bosdure E, et al. Among authors: chabrol b. Arch Pediatr. 2006 Aug;13(8):1121-4. doi: 10.1016/j.arcped.2006.04.019. Epub 2006 Jun 21. Arch Pediatr. 2006. PMID: 16793244 French.

8

[Metabolic diseases. Inherited metabolic diseases: importance of diagnosis].

Chabrol B, Cano A. Chabrol B, et al. Ann Biol Clin (Paris). 2006 Nov-Dec;64(6):581-2. Ann Biol Clin (Paris). 2006. PMID: 17256234 Free article. French. No abstract available.

9

[Fabry disease in childhood].

Chabrol B, Mansour H, Cano A. Chabrol B, et al. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.

10

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Among authors: chabrol b. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405

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